Canonical Allele Identifier: CA789529

Gene: PPT1

Linked Data

• dbSNP Id: rs770043334
• ExAC: 1:40539691 G / A
• gnomAD v2: 1-40539691-G-A
• MyVariant Identifiers: chr1:g.40539691G>A (hg19) ; chr1:g.40074019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074019G>A , CM000663.2:g.40074019G>A	GRCh38
NC_000001.10:g.40539691G>A , CM000663.1:g.40539691G>A	GRCh37
NC_000001.9:g.40312278G>A	NCBI36
NG_009192.1:g.28452C>T , LRG_690:g.28452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*42C>T	ENSP00000394863.4:n.*42C>T
ENST00000439754.6:c.*42C>T	ENSP00000403207.2:n.*42C>T
ENST00000449045.7:c.*42C>T	ENSP00000392293.2:n.*42C>T
ENST00000530076.6:c.*42C>T	ENSP00000434007.1:n.*42C>T
ENST00000530704.6:c.*586C>T	ENSP00000431655.1:n.*586C>T
ENST00000641083.1:c.1053C>T
ENST00000641236.1:n.1200C>T
ENST00000641319.1:c.*173C>T	ENSP00000493128.1:n.*173C>T
ENST00000641381.1:c.385C>T
ENST00000641471.1:c.*42C>T	ENSP00000493146.1:n.*42C>T
ENST00000641691.1:c.*815C>T	ENSP00000492910.1:n.*815C>T
ENST00000642050.2:c.*42C>T MANE Select	ENSP00000493153.1:n.*42C>T
ENST00000372775.2:n.360C>T
ENST00000433473.7:c.*42C>T	ENSP00000394863.3:n.*42C>T
ENST00000439754.5:c.576C>T	ENSP00000403207.1:n.576C>T
ENST00000449045.6:c.*42C>T	ENSP00000392293.2:n.*42C>T
ENST00000529905.5:c.*42C>T	ENSP00000432053.1:n.*42C>T
ENST00000530704.5:c.*586C>T	ENSP00000431655.1:n.*586C>T
NM_000310.3:c.*42C>T , LRG_690t1:c.*42C>T	NP_000301.1:n.*42C>T
NM_001142604.1:c.*42C>T	NP_001136076.1:n.*42C>T
XM_005271008.1:c.*42C>T	XP_005271065.1:n.*42C>T
NM_001363695.1:c.*42C>T	NP_001350624.1:n.*42C>T
NM_000310.4:c.*42C>T MANE Select	NP_000301.1:n.*42C>T
NM_001142604.2:c.*42C>T	NP_001136076.1:n.*42C>T
NM_001363695.2:c.*42C>T	NP_001350624.1:n.*42C>T